Relationship Between BRCA1/2 Mutation And Clinicopathological Features In Triple Negative Breast Cancer

BackgroundBreast cancer has become one of the most common malignant tumors among women in the world.As a developing country,although the incidence of breast cancer is not as high as in developed countries in Europe and America,it is also showing a rising trend year by year.With the rapid development of molecular biology in the medical field in the late 20 th century,the molecular classification of breast cancer appeared before the eyes of medical workers.The types are: luminal type A,luminal type B,Her-2 overexpressed and basal-like breast cancer,and approximately 80-90% of basal-like breast cancers are triple negative breast cancers.Triple-negative breast cancer refers to the lack of estrogen receptor,progesterone receptor and human epidermal growth factor receptor-2 in breast cancer cells stained by immunohistochemistry,which accounts for about 15%-20% of all breast cancers.Its special immunohistochemical typing has led to TNBC itself not benefiting from endocrine therapy and anti-Her-2 targeted therapy,and its early recurrence rate is relatively high compared to other types of breast cancer,including lung and brain metastases,so the patient's clinical prognosis is poor.TNBC alone as a factor influencing the prognosis of breast cancer patients has been increasingly valued by clinical and scientific researchers.In the 21 st century,molecular biology explores the causes of diseases from the perspective of genes,and the high-throughput sequencing technology has provided new information for clinicians from the origin to further optimization.Breast cancer susceptibility gene-1 and breast cancer susceptibility gene 2 are confirmed as tumor suppressor genes closely related to hereditary breast cancer.The patients with BRCA germline mutation are closely related to 15% of TNBC,while TNBC accounts for about 70% and 20% of BRCA1 and BRCA2 mutation carriers.It can be seen that TNBC and BRCA gene mutations are inextricably linked.Therefore,the clinical and pathological features of patients carrying different BRCA mutations are worth exploring.This article has included triple-negative breast cancer patients who have been tested for the mutational status of BRCA1 and BRCA2 genes and studied their association with clinical pathological features of patients.ObjectiveTo study the mutation status of BRCA1/2?susceptible breast cancer 1/2?in triple-negative breast cancer patients and analyze the relationship between the mutation and the clinicopathological features of triple-negative breast cancer.MethodsA total of 46 triple-negative breast cancer tissues and blood specimens were selected.High-throughput sequencing techniques were used to detect the exon and partial intron regions of the BRCA1 and BRCA2 genes and ±50 bp upstream and downstream of the exon of the enrolled patients.The mutation region was detected,and 46 patients were grouped according to whether they contained the disease-causing mutations.The ?2 test was used to compare and analyze the differences and relations between the clinicopathological features.ResultsIn 46 patients with triple-negative breast cancer,8 cases of BRCA1/2 mutations were detected,of which 3 frame-shift mutations,c.5085₅086insT,c.3656 delA,and c.3719₃720delTG,were newly discovered pathogenic mutations,including BRCA1/2The pathogenic mutation group had the characteristics of low age of onset,small maximum diameter of tumor,low ratio of lymph node metastasis and early clinical stage,but the difference was not statistically significant?P>0.05?.The proportion of family history was higher than that of non-pathogenic mutation group.The difference was statistically significant?P<0.05?.Conclusion1.BRCA1 mutation rate is higher in BRCA gene in triple negative breast cancer.2.Patients with a family history of breast cancer have a higher mutation rate of BRCA gene.3.The mutation sites c.5085₅086insT,c.3656 delA,and c.3719₃720delTG may be unique mutation sites in China and enrich the BRCA gene mutation research database.4.The newly discovered pathogenic mutation sites have certain guiding significance for clinical genetic counseling.